{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338260014", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1475096[alleleid]", "alleleId": 1475096, "preferredName": "NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1442231", "RCV": [ "RCV001952943" ], "variationId": 1442231 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17328807G>A?assembly=hg19", "id": "chr1:g.17328807G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17002312G>A?assembly=hg38", "id": "chr1:g.17002312G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1483668823", "rs": 1483668823 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17328807-G-A?dataset=gnomad_r2_1", "id": "1-17328807-G-A", "variant": "1:17328807 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17002312-G-A?dataset=gnomad_r4", "id": "1-17002312-G-A", "variant": "1:17002312 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17002312, "referenceAllele": "G", "start": 17002311 } ], "hgvs": [ "NC_000001.11:g.17002312G>A", "CM000663.2:g.17002312G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17328807, "referenceAllele": "G", "start": 17328806 } ], "hgvs": [ "NC_000001.10:g.17328807G>A", "CM000663.1:g.17328807G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17201394, "referenceAllele": "G", "start": 17201393 } ], "hgvs": [ "NC_000001.9:g.17201394G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 14617, "referenceAllele": "C", "start": 14616 } ], "hgvs": [ "NG_009054.1:g.14617C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln207Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Gln207_Arg1180delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746785", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.619C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.619C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln207Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln207Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln207Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Gln207_Arg1180delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Gln202Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Gln202_Val1158delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Gln202Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Gln202_Arg1175delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000508222.5:c.338C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339296" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000510069.5:c.542C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340682" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000511957.5:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000427241.1:p.Gln111Ter", "hgvsWellDefined": "ENSP00000427241.1:p.Gln111_Val190del" }, "referenceSequence": "http://reg.genome.network/refseq/RS342101" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000617114.4:c.-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000478781.1:n.-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS403341" }, { "@id": "http://reg.genome.network/allele/PA2825835136", "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.604C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln202Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln202_Arg1175delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836317", "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.604C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln202Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln202_Val1158delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA2573281490", "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln207Ter", "hgvsWellDefined": "NP_071372.1:p.Gln207_Arg1180delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Gln207Ter", "hgvsWellDefined": "XP_005245866.1:p.Gln207_Val1202delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Gln206Ter", "hgvsWellDefined": "XP_005245867.1:p.Gln206_Val1201delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.604C>T" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Gln202Ter", "hgvsWellDefined": "XP_005245868.1:p.Gln202_Val1197delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Gln207Ter", "hgvsWellDefined": "XP_005245869.1:p.Gln207_Val1193delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Gln207Ter", "hgvsWellDefined": "XP_005245870.1:p.Gln207_Val1182delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Gln207Ter", "hgvsWellDefined": "XP_005245872.1:p.Gln207_Val1163delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.601C>T" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Gln201Ter", "hgvsWellDefined": "XP_006710575.1:p.Gln201_Val1196delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.604C>T" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Gln202Ter", "hgvsWellDefined": "XP_006710576.1:p.Gln202_Val1188delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Gln207Ter", "hgvsWellDefined": "XP_011539430.1:p.Gln207_Val1197delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Gln207Ter", "hgvsWellDefined": "XP_011539431.1:p.Gln207_Val1133delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Gln207Ter", "hgvsWellDefined": "XP_016856333.1:p.Gln207_Arg1175delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.601C>T" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Gln201Ter", "hgvsWellDefined": "XP_016856334.1:p.Gln201_Arg1174delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.604C>T" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Gln202Ter", "hgvsWellDefined": "XP_016856335.1:p.Gln202_Arg1166delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Gln206Ter", "hgvsWellDefined": "XP_016856336.1:p.Gln206_Arg1165delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Gln207Ter", "hgvsWellDefined": "XP_016856337.1:p.Gln207_Arg1141delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.604C>T" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Gln202Ter", "hgvsWellDefined": "XP_016856338.1:p.Gln202_Arg1136delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Gln207Ter", "hgvsWellDefined": "XP_016856339.1:p.Gln207_Arg1111delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA2573281490", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.619C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln207Ter", "hgvsWellDefined": "NP_071372.1:p.Gln207_Arg1180delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670368", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.619C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.619C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln207Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln207Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835136", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.604C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln202Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln202_Arg1175delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836317", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.604C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln202Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln202_Val1158delinsAspGlnMetValArgLysAlaIleTyrGlyProAsnValIleSerIleProValLysSerTyrProGlnLeuLeuValAspGluAlaLeuAsnProTyrTyrGlyPheGlnAlaPheSerIleAlaLeuTrpLeuAlaAspHisTyrTyrTrpTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }